Improved fusion gene diagnosis for young patients with sarcomas by Dr James Blackburn


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Sarcomas, or connective tissue cancers, are rare in paediatric/adolescent and young adults, with the survival rate remaining one of the lowest of all cancer types for this age group. Fusion genes are a significant cause of sarcoma, but current diagnostic methods are ineffective at detecting them, which limits informed patient care.

In 2019, Dr James Blackburn from The Garvan Institute of Medical Research received a grant from the St Vincent’s Clinic Research Foundation. The primary goal of the project was to implement a new technology developed in his lab to accurately diagnose fusion genes in a group of paediatric/adolescent and young adults with sarcoma. The aim was to understand the extent to which fusion genes contribute to connective tissue cancers in young patients.

The project successfully demonstrated the improved diagnostic potential of the novel fusion gene test for sarcomas in young patients. The test identified fusion genes in 20 patients in a single attempt, whereas conventional clinical methods only identified fusion genes in 15 patients after multiple attempts. Following these findings, the test has been applied in collaboration with Douglass Hanly Moir Pathology to improve disease classification in sarcomas. It has since gained a good reputation among pathologists and clinicians.

The SVCRF grant played a crucial role in establishing the efficacy of the fusion gene test and attracting additional funding. It led to partnerships with IDT and DHM Pathology and collaborations with Sydney Children’s Hospital and the Children’s Cancer Institute. These collaborations have facilitated accurate diagnoses, improved prognoses, and enhanced future disease surveillance. The ultimate goal is to fully commercialise the fusion gene test, making it globally available for research and diagnostic purposes. Additional financial support from the National Foundation for Medical Research and Innovation (NFMRI) has further aided these commercialisation efforts.

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